T. Alastalo

发表

Targeting the Wnt signaling pathways in pulmonary arterial hypertension.

M. Rabinovitch, E. Spiekerkoetter, V. A. de Jesus Perez, 2014, Drug discovery today.

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

C. Vasilescu, T. Ojala, A. Suomalainen, 2018, Journal of the American College of Cardiology.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

M. Gentile, T. Heliö, S. Tuupanen, 2021, BMC Cardiovascular Disorders.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

M. Irving, J. Koskenvuo, L. Pelttari, 2021, Orphanet Journal of Rare Diseases.

LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper‐Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

M. Laakso, P. Heikkilä, P. Taimen, 2015, Human mutation.

S100A4 and Bone Morphogenetic Protein-2 Codependently Induce Vascular Smooth Muscle Cell Migration via Phospho–Extracellular Signal-Regulated Kinase and Chloride Intracellular Channel 4

A. Schmidt, N. Ambartsumian, M. Berryman, 2009, Circulation research.

Disruption of Heat Shock Factor 1 Reveals an Essential Role in the Ubiquitin Proteolytic Pathway

I. Benjamin, L. Sistonen, L. Pirkkala, 2000, Molecular and Cellular Biology.

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

T. Heliö, S. Myllykangas, J. Koskenvuo, 2020, BMC Medical Genetics.

Systemic Dosing of Thymosin Beta 4 before and after Ischemia Does Not Attenuate Global Myocardial Ischemia-Reperfusion Injury in Pigs

J. Knuuti, P. Taimen, A. Saraste, 2016, Front. Pharmacol..

Autophagic protein LC3B confers resistance against hypoxia-induced pulmonary hypertension.

S. Ryter, A. Choi, Zhihua Chen, 2011, American journal of respiratory and critical care medicine.

Therapeutic potential of thymosin β4 in myocardial infarct and heart failure

P. Taimen, A. Saraste, J. Pärkkä, 2012, Annals of the New York Academy of Sciences.

Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development

S. Myllykangas, J. Koskenvuo, T. Alastalo, 2015, American journal of medical genetics. Part A.

Formation of nuclear stress granules involves HSF2 and coincides with the nucleolar localization of Hsp70

L. Sistonen, Anton Sandqvist, V. Hietakangas, 2003, Journal of Cell Science.

Proteolytic Pathway an Essential Role in the Ubiquitin Disruption of Heat Shock Factor 1 Reveals

I. Benjamin, L. Sistonen, L. Pirkkala, 2000 .

Suppression of endothelial CD39/ENTPD1 is associated with pulmonary vascular remodeling in pulmonary arterial hypertension.

P. Taimen, J. Koskenvuo, V. A. de Jesus Perez, 2015, American journal of physiology. Lung cellular and molecular physiology.

Whole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertension.

Maya B. Mathur, A. Butte, E. Ashley, 2014, American journal of respiratory and critical care medicine.

An antiproliferative BMP-2/PPARgamma/apoE axis in human and murine SMCs and its role in pulmonary hypertension.

G. Hansmann, N. Morrell, C. Alvira, 2008, The Journal of clinical investigation.

Differentiation lineage‐specific expression of human heat shock transcription factor 2

L. Sistonen, L. Pirkkala, Päivi Nykänen, 1999, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Stage-specific expression and cellular localization of the heat shock factor 2 isoforms in the rat seminiferous epithelium.

L. Sistonen, S. Leppä, K. Kaarniranta, 1998, Experimental cell research.

Tie2-mediated loss of peroxisome proliferator-activated receptor- (cid:1) in mice causes PDGF receptor- (cid:2) -dependent pulmonary arterial muscularization

G. Hansmann, C. Alvira, M. Rabinovitch, 2009 .

Tie2-mediated loss of peroxisome proliferator-activated receptor-gamma in mice causes PDGF receptor-beta-dependent pulmonary arterial muscularization.

G. Hansmann, C. Alvira, M. Rabinovitch, 2009, American journal of physiology. Lung cellular and molecular physiology.

Reduced carboxylesterase 1 is associated with endothelial injury in methamphetamine-induced pulmonary arterial hypertension.

G. Berry, I. Y. Chen, B. Hammock, 2017, American journal of physiology. Lung cellular and molecular physiology.

angiogenesis and alveolarization B in the developing lung disrupts κ Inhibiting NF

D. Cornfield, C. Alvira, S. Lyu, 2012 .

Inhibiting NF-κB in the developing lung disrupts angiogenesis and alveolarization.

D. Cornfield, Yan-li Hou, C. Alvira, 2012, American journal of physiology. Lung cellular and molecular physiology.

Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK

G. Hansmann, M. Gorenflo, J. Koskenvuo, 2016, Heart.

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

T. Heliö, S. Myllykangas, O. Pitkänen, 2018, PloS one.

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

Ferhaan Ahmad, T. Wong, B. Keavney, 2021, Cell reports. Medicine.

Hormonal and developmental regulation of DAX-1 expression in Sertoli cells.

E. Lalli, P. Sassone-Corsi, L. Monaco, 1996, Molecular endocrinology.

Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy.

G. Oudit, Faqi Wang, R. Basu, 2017, Circulation. Heart failure.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

S. Myllykangas, J. Koskenvuo, K. Alakurtti, 2021, PloS one.

Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing

M. Gentile, S. Myllykangas, J. Koskenvuo, 2015, Molecular genetics & genomic medicine.

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

T. Ojala, M. Gentile, S. Ahonen, 2021, PloS one.

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Y. Pinto, M. P. van den Berg, R. L. Lekanne Deprez, 2019, Scientific Reports.

Extracellular ATP protects endothelial cells against DNA damage

J. Koskenvuo, T. Alastalo, Mikko Helenius, 2016, Purinergic Signalling.

2019 updated consensus statement on the diagnosis and treatment of pediatric pulmonary hypertension: The European Pediatric Pulmonary Vascular Disease Network (EPPVDN), endorsed by AEPC, ESPR and ISHLT.

G. Hansmann, M. Gatzoulis, N. Morrell, 2019, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

GATA4 is a key regulator of steroidogenesis and glycolysis in mouse Leydig cells.

J. Toppari, V. Velagapudi, Simon Fischer, 2015, Endocrinology.

Reduced BMPR2 expression induces GM-CSF translation and macrophage recruitment in humans and mice to exacerbate pulmonary hypertension

P. Sarnow, Pin-i Chen, G. Gurtner, 2014, The Journal of experimental medicine.

Bone morphogenetic protein 2 induces pulmonary angiogenesis via Wnt –-catenin and Wnt – RhoA – Rac 1 pathways

J. Axelrod, J. Cooke, M. Rabinovitch, 2022 .

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

C. Vasilescu, A. Paetau, T. Ojala, 2016, American journal of medical genetics. Part A.

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

T. Heliö, S. Myllykangas, O. Anttonen, 2017, BMC Medical Genetics.

Relevance of truncating titin mutations in dilated cardiomyopathy

J. Koskenvuo, O. Akinrinade, T. Alastalo, 2016, Clinical genetics.

BMP promotes motility and represses growth of smooth muscle cells by activation of tandem Wnt pathways

E. Ashley, Z. Ali, S. Dedhar, 2011, The Journal of cell biology.

Prevalence of Titin Truncating Variants in General Population

J. Koskenvuo, O. Akinrinade, T. Alastalo, 2015, PloS one.

Brain abnormalities, defective meiotic chromosome synapsis and female subfertility in HSF2 null mice

M. Morange, L. Sistonen, L. Pâslaru, 2002, The EMBO journal.

Loss of PPARγ in endothelial cells leads to impaired angiogenesis

C. Alvira, J. Koskenvuo, M. Rabinovitch, 2016, Journal of Cell Science.

Disruption of PPARγ/β-catenin-mediated regulation of apelin impairs BMP-induced mouse and human pulmonary arterial EC survival.

Howard Y. Chang, Jordon K. Wang, B. Freeman, 2011, The Journal of clinical investigation.

Executive summary. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK

G. Hansmann, T. Kuehne, V. Muthurangu, 2016, Heart.

A comparison of echocardiography to invasive measurement in the evaluation of pulmonary arterial hypertension in a rat model

A. Boyle, N. Schiller, K. Chatterjee, 2010, The International Journal of Cardiovascular Imaging.

Bone morphogenetic protein 2 induces pulmonary angiogenesis via Wnt–β-catenin and Wnt–RhoA–Rac1 pathways

J. Axelrod, J. Cooke, M. Rabinovitch, 2009, The Journal of cell biology.

Genomic organization and promoter analysis of the human heat shock factor 2 gene

L. Sistonen, N. Horelli-Kuitunen, L. Pirkkala, 2001, Cell stress & chaperones.

Loss of bone morphogenetic protein receptor 2 is associated with abnormal DNA repair in pulmonary arterial hypertension.

P. Taimen, S. Myllykangas, J. Koskenvuo, 2014, American journal of respiratory cell and molecular biology.

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

K. Nikus, M. Gentile, S. Ahonen, 2021, Frontiers in Genetics.

Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy

M. Nieminen, M. Gentile, M. Kaartinen, 2015, European heart journal.

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

E. Sankila, S. Tuupanen, S. Myllykangas, 2022, Translational vision science & technology.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

M. Irving, J. Koskenvuo, L. Pelttari, 2021, Orphanet Journal of Rare Diseases.

Thymosin beta 4 treatment improves left ventricular function after myocardial infarction and is related to Up-regulation of chitinase 3-like-1 in mice

P. Taimen, A. Saraste, J. Koskenvuo, 2016, Translational Medicine Communications.

Timothy syndrome type 2 associated CACNA1C G402S mutation in a teenage girl with idiopathic ventricular fibrillation

S. Myllykangas, J. Koskenvuo, T. Alastalo, 2014 .

Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

M. Irving, J. Koskenvuo, T. Kangas-Kontio, 2022, Orphanet Journal of Rare Diseases.

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

Ferhaan Ahmad, T. Wong, B. Keavney, 2022, Cell reports. Medicine.

The Mouseion at the JAXlibrary The Mouseion at the JAXlibrary

Ferhaan Ahmad, M. Rynkiewicz, A. Bais, 2022 .

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

T. Heliö, S. Myllykangas, J. Koskenvuo, 2023, Frontiers in cardiovascular medicine.

Targeting the Wnt signaling pathways in pulmonary arterial hypertension.

M. Rabinovitch, E. Spiekerkoetter, V. A. de Jesus Perez, 2014, Drug discovery today.

Inhibiting NF-κB in the developing lung disrupts angiogenesis and alveolarization.

D. Cornfield, C. Alvira, S. Lyu, 2012, American journal of physiology. Lung cellular and molecular physiology.

G. Hansmann, T. Kuehne, V. Muthurangu, 2016, Heart.